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DNAH6 dynein axonemal heavy chain 6 [ Homo sapiens (human) ]

Gene ID: 1768, updated on 13-Aug-2022

Summary

Official Symbol
DNAH6provided by HGNC
Official Full Name
dynein axonemal heavy chain 6provided by HGNC
Primary source
HGNC:HGNC:2951
See related
Ensembl:ENSG00000115423 MIM:603336; AllianceGenome:HGNC:2951
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HL2; HL-2; DNHL1; Dnahc6
Summary
This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]
Expression
Biased expression in testis (RPKM 1.8), thyroid (RPKM 0.7) and 11 other tissues See more
Orthologs
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Genomic context

See DNAH6 in Genome Data Viewer
Location:
2p11.2
Exon count:
80
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (84459572..84819589)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (84518526..84821356)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (84743622..85046713)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985905 Neighboring gene FUN14 domain containing 2 pseudogene 2 Neighboring gene succinate-CoA ligase GDP/ADP-forming subunit alpha Neighboring gene ubiquitin specific peptidase 26 pseudogene Neighboring gene double homeobox A pseudogene 1 Neighboring gene lactate dehydrogenase A pseudogene 7 Neighboring gene TraB domain containing 2A Neighboring gene uncharacterized LOC105374837 Neighboring gene uncharacterized LOC105374836 Neighboring gene ribosomal protein L12 pseudogene 18

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23529, FLJ37357, KIAA1697, MGC132544, MGC141984, MGC177197, DKFZp667K087

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables minus-end-directed microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cilium-dependent cell motility IEA
Inferred from Electronic Annotation
more info
 
involved_in microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of axonemal dynein complex IEA
Inferred from Electronic Annotation
more info
 
part_of dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dynein axonemal heavy chain 6
Names
axonemal beta dynein heavy chain 6
ciliary dynein heavy chain 6
dynein heavy chain-like 1
dynein, axonemal, heavy polypeptide 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050957.1 RefSeqGene

    Range
    61959..365050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001370.2NP_001361.1  dynein axonemal heavy chain 6

    See identical proteins and their annotated locations for NP_001361.1

    Status: REVIEWED

    Source sequence(s)
    AC010087, AC096770, AC098975, AC109827
    Consensus CDS
    CCDS46348.1
    UniProtKB/Swiss-Prot
    Q9C0G6, Q9H5E1
    Related
    ENSP00000374045.3, ENST00000389394.8
    Conserved Domains (4) summary
    COG5245
    Location:11193776
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08393
    Location:8791299
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:14341760
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam18199
    Location:38294154
    Dynein_C; Dynein heavy chain C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    84459572..84819589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532650.4XP_011530952.1  dynein axonemal heavy chain 6 isoform X1

    See identical proteins and their annotated locations for XP_011530952.1

    UniProtKB/Swiss-Prot
    Q9C0G6, Q9H5E1
    Conserved Domains (4) summary
    COG5245
    Location:11193776
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08393
    Location:8791299
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:14341760
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam18199
    Location:38294154
    Dynein_C; Dynein heavy chain C-terminal domain
  2. XM_011532649.3XP_011530951.1  dynein axonemal heavy chain 6 isoform X1

    See identical proteins and their annotated locations for XP_011530951.1

    UniProtKB/Swiss-Prot
    Q9C0G6, Q9H5E1
    Conserved Domains (4) summary
    COG5245
    Location:11193776
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08393
    Location:8791299
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:14341760
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam18199
    Location:38294154
    Dynein_C; Dynein heavy chain C-terminal domain
  3. XM_006711956.3XP_006712019.1  dynein axonemal heavy chain 6 isoform X1

    See identical proteins and their annotated locations for XP_006712019.1

    UniProtKB/Swiss-Prot
    Q9C0G6, Q9H5E1
    Conserved Domains (4) summary
    COG5245
    Location:11193776
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08393
    Location:8791299
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:14341760
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam18199
    Location:38294154
    Dynein_C; Dynein heavy chain C-terminal domain
  4. XM_011532653.2XP_011530955.1  dynein axonemal heavy chain 6 isoform X3

    Conserved Domains (5) summary
    pfam03028
    Location:33584097
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:8821300
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:26412973
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:30013217
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:14341664
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  5. XM_011532652.2XP_011530954.1  dynein axonemal heavy chain 6 isoform X2

    Conserved Domains (5) summary
    pfam03028
    Location:33654104
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:8821300
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:26482980
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:30083224
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:13921622
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  6. XM_017003521.2XP_016859010.1  dynein axonemal heavy chain 6 isoform X4

  7. XM_017003524.2XP_016859013.1  dynein axonemal heavy chain 6 isoform X10

  8. XM_011532660.2XP_011530962.1  dynein axonemal heavy chain 6 isoform X9

    Conserved Domains (2) summary
    pfam08393
    Location:8821300
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl21455
    Location:14341664
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  9. XM_047443589.1XP_047299545.1  dynein axonemal heavy chain 6 isoform X7

  10. XM_011532654.1XP_011530956.1  dynein axonemal heavy chain 6 isoform X5

    Conserved Domains (5) summary
    pfam03028
    Location:32774016
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:7521170
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:25602892
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:29203136
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:13041534
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  11. XM_011532655.2XP_011530957.1  dynein axonemal heavy chain 6 isoform X6

    Conserved Domains (5) summary
    pfam03028
    Location:30793818
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:554972
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:23622694
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:27222938
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:11061336
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  12. XM_011532657.1XP_011530959.1  dynein axonemal heavy chain 6 isoform X7

    See identical proteins and their annotated locations for XP_011530959.1

    Conserved Domains (5) summary
    pfam03028
    Location:29863725
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:461879
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:22692601
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:26292845
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:10131243
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  13. XM_047443590.1XP_047299546.1  dynein axonemal heavy chain 6 isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    84518526..84821356
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173645.1: Suppressed sequence

    Description
    NM_173645.1: This RefSeq was permanently suppressed because the CDS was partial.